Metadata | |
---|---|
ID | DOID:0110270 |
Name | cataract 17 multiple types |
Definition | A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/12360425 |
Xrefs | |
Synonyms |
autosomal recessive congenital nuclear cataract 3 [NARROW] CATCN3 [NARROW] CTRCT17 [EXACT] |
Parent Relationships |
is_a cataract |